rs4978617
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000649121.1(DELEC1):n.78+32908C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.615 in 152,098 control chromosomes in the GnomAD database, including 29,750 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000649121.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DELEC1 | ENST00000649121.1 | n.78+32908C>T | intron_variant, non_coding_transcript_variant | ||||||
DELEC1 | ENST00000648852.1 | n.276+32908C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.615 AC: 93496AN: 151978Hom.: 29738 Cov.: 32
GnomAD4 genome ? AF: 0.615 AC: 93549AN: 152098Hom.: 29750 Cov.: 32 AF XY: 0.616 AC XY: 45796AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at